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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:Hereditary Macular Coloboma
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Accession:DOID:9004910 term browser browse the term
Synonyms:exact_synonym: agenesis of macula;   coloboma of macula;   macular coloboma
 primary_id: MESH:C535968
For additional species annotation, visit the Alliance of Genome Resources.


GViewer not supported for chinchilla.
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Hereditary Macular Coloboma term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nmnat1 nicotinamide nucleotide adenylyltransferase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22842230 NCBI chrNW_004955486:3,637,794...3,655,744
Ensembl chrNW_004955486:3,637,794...3,655,598
JBrowse link
G Tmem67 transmembrane protein 67 ISO ClinVar Annotator: match by term: Macular coloboma ClinVar PMID:10508989, PMID:19466712, PMID:19508969, PMID:19540516, PMID:19574260, PMID:19778711, PMID:20232449, PMID:20607301, PMID:21068128, PMID:21866095, PMID:23559409, PMID:25729630, PMID:25741868, PMID:25920555, PMID:26035863, PMID:26092869, PMID:27491411, PMID:28492532, PMID:30311386 NCBI chrNW_004955417:10,097,488...10,137,959
Ensembl chrNW_004955417:10,097,472...10,138,644
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 11814
    sensory system disease 4549
      eye disease 2381
        Eye Abnormalities 332
          coloboma 83
            Hereditary Macular Coloboma 2
Path 2
Term Annotations click to browse term
  disease 11814
    disease of anatomical entity 11367
      nervous system disease 9307
        sensory system disease 4549
          eye disease 2381
            Eye Abnormalities 332
              coloboma 83
                Hereditary Macular Coloboma 2
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.